Incidental Mutation 'IGL02896:Tigit'
ID 363418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tigit
Ensembl Gene ENSMUSG00000071552
Gene Name T cell immunoreceptor with Ig and ITIM domains
Synonyms ENSMUSG00000071552, Vstm3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02896
Quality Score
Status
Chromosome 16
Chromosomal Location 43469230-43484509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43482561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 58 (V58I)
Ref Sequence ENSEMBL: ENSMUSP00000093770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096065]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000096065
AA Change: V58I

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093770
Gene: ENSMUSG00000071552
AA Change: V58I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 20 27 N/A INTRINSIC
IG 31 128 3.15e-10 SMART
transmembrane domain 140 162 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased T cell proliferation, antigen presenting cell stimuation of T cell proliferation, and susceptibility to EAE. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 88,315,648 (GRCm39) D246G probably damaging Het
Adcy2 A G 13: 68,875,991 (GRCm39) S504P probably damaging Het
Adgrv1 A T 13: 81,668,858 (GRCm39) I2566K probably damaging Het
Als2 A G 1: 59,222,946 (GRCm39) V1108A probably benign Het
Atad2b T A 12: 5,008,151 (GRCm39) F466I probably damaging Het
Cyp2a22 T C 7: 26,635,886 (GRCm39) M226V probably damaging Het
D5Ertd579e T C 5: 36,771,326 (GRCm39) D1023G possibly damaging Het
D630003M21Rik T C 2: 158,059,205 (GRCm39) I232V probably benign Het
Dolpp1 T C 2: 30,286,242 (GRCm39) S114P probably damaging Het
Fars2 T A 13: 36,388,825 (GRCm39) S105T probably benign Het
Fndc7 T C 3: 108,770,247 (GRCm39) I560V probably benign Het
Gcn1 T C 5: 115,757,707 (GRCm39) probably benign Het
Gm5134 T C 10: 75,810,058 (GRCm39) L113P possibly damaging Het
Hipk2 G T 6: 38,675,382 (GRCm39) H1066Q probably damaging Het
Katnb1 A G 8: 95,822,656 (GRCm39) probably benign Het
Lrrd1 T A 5: 3,901,473 (GRCm39) S593T probably benign Het
Mastl T C 2: 23,021,779 (GRCm39) R713G probably damaging Het
Meak7 T C 8: 120,489,164 (GRCm39) D373G probably damaging Het
Mrgpra6 T A 7: 46,838,655 (GRCm39) D181V probably benign Het
Mroh7 C T 4: 106,557,013 (GRCm39) V828I possibly damaging Het
Nbeal2 A G 9: 110,468,360 (GRCm39) probably null Het
Nckap5l G T 15: 99,325,091 (GRCm39) Q471K possibly damaging Het
Or12j5 T C 7: 140,083,968 (GRCm39) probably null Het
Or1j15 A T 2: 36,459,217 (GRCm39) L202F possibly damaging Het
Or5an1c A T 19: 12,218,353 (GRCm39) L224* probably null Het
Pfn4 A G 12: 4,825,451 (GRCm39) N96S probably benign Het
Ppp1r3c G A 19: 36,710,865 (GRCm39) P302S probably benign Het
Senp2 T G 16: 21,837,118 (GRCm39) Y122* probably null Het
Slc5a7 C A 17: 54,600,045 (GRCm39) G123* probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tent2 A T 13: 93,304,945 (GRCm39) N280K probably damaging Het
Th C T 7: 142,449,168 (GRCm39) R289Q probably damaging Het
Ush1c C A 7: 45,847,839 (GRCm39) V810L probably benign Het
Vmn2r120 C A 17: 57,816,008 (GRCm39) K782N probably damaging Het
Other mutations in Tigit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Tigit APN 16 43,479,885 (GRCm39) missense probably benign 0.00
IGL02085:Tigit APN 16 43,469,473 (GRCm39) missense probably benign
R0446:Tigit UTSW 16 43,482,634 (GRCm39) missense probably damaging 1.00
R0648:Tigit UTSW 16 43,482,401 (GRCm39) missense probably damaging 0.96
R1137:Tigit UTSW 16 43,469,485 (GRCm39) missense probably benign 0.40
R1423:Tigit UTSW 16 43,469,395 (GRCm39) missense probably benign 0.00
R1943:Tigit UTSW 16 43,469,581 (GRCm39) missense probably benign 0.00
R4900:Tigit UTSW 16 43,469,594 (GRCm39) missense probably damaging 0.98
R4921:Tigit UTSW 16 43,482,380 (GRCm39) missense probably damaging 1.00
R7131:Tigit UTSW 16 43,482,615 (GRCm39) missense probably damaging 1.00
R9135:Tigit UTSW 16 43,479,876 (GRCm39) missense possibly damaging 0.91
R9275:Tigit UTSW 16 43,479,833 (GRCm39) missense probably benign 0.13
R9427:Tigit UTSW 16 43,482,515 (GRCm39) missense probably benign 0.35
Z1176:Tigit UTSW 16 43,482,349 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18